Don’t fight Autosomal recessive spastic ataxia 4 alone.
Find your community on the free RareGuru App.The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 254343
Definition
A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
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Hyperreflexia |
Advanced ossification of carpal bones |
Partial agenesis of the corpus callosum |
Male hypogonadism |
Midline defect of the nose |
Babinski sign |
Dysarthria |
Optic atrophy |
Spastic paraparesis |
30%-79% of people have these symptoms.
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5%-29% of people have these symptoms.
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Hyporeflexia |
Emotional lability |
An unknown % of people have these symptoms.
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